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Newborns main panel

Gene: CYP27B1

Green List (high evidence)
CYP27B1 (cytochrome P450 family 27 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000111012
EnsemblGeneIds (GRCh37): ENSG00000111012
OMIM: 609506, Gene2Phenotype
CYP27B1 is in 3 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Vitamin D-dependent rickets, type I
OMIM
609506
Clinvar variants
Variants in CYP27B1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Vitamin D-dependent rickets, type I for gene: CYP27B1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Vitamin D-dependent rickets, type I for gene: CYP27B1

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CYP27B1. Added phenotypes Vitamin D-dependent rickets, type I for gene: CYP27B1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CYP27B1. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Vitamin D-dependent rickets, type I for gene: CYP27B1

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CYP27B1 was added gene: CYP27B1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal